ClinGen Allele Registry
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Canonical Allele Identifier:
CA195146728
Gene: TLE1-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs11139399
gnomAD v2:
9-84372741-T-C
gnomAD v3:
9-81757826-T-C
gnomAD v4:
9-81757826-T-C
MyVariant Identifiers:
chr9:g.84372741T>C (hg19)
chr9:g.81757826T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.81757826T>C , CM000671.2:g.81757826T>C
GRCh38
NC_000009.11:g.84372741T>C , CM000671.1:g.84372741T>C
GRCh37
NC_000009.10:g.83562561T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109772.1:n.486+8014T>C
Search 100 bp 5'
Search 100 bp 3'